| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Shwachman-Diamond syndrome 1 | |
| | | Microsatellite (frameshift variant) | not provided +3 more | |
| | | Single nucleotide variant (splice donor variant) | SBDS-related condition +11 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | Inborn genetic diseases +3 more | |
| | | Indel (nonsense) | SBDS-related condition +5 more | |
| | | Deletion (frameshift variant) | Shwachman-Diamond syndrome 1 +2 more | |
| | | Microsatellite (inframe_deletion) | Neutropenia, severe congenital, 8, autosomal dominant +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Neutropenia, severe congenital, 8, autosomal dominant +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
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